A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17496727



Internal ID22554661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43227456..43235401hg38UCSC Ensembl
chr5:43227558..43235503hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg387946
hg197946
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5842994
Supporting Variants
Samples
Known GenesNIM1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17496727
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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